Basic information

Full name
actin alpha 1, skeletal muscle
Ensembl
ENSG00000143632.14
Summary
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

Protein product

  • ENST00000366684.7 Primary ENSP00000355645.3 (0 phosphosite)
  • ENST00000366683.3
Phosphosites on the primary protein product
Loading...

Tumor and normal comparison

Loading, please wait
Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-4.5e-7--0.17---2.5e-3-0.019-0.095--4.1e-3-
protein-1.8e-41-0.024-3.2e-24--1.7e-4-4.8e-32-1.1e-32--0.0390.086

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214161820log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADPDACUCEC161820222426283032log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0510152025303540450-5-10-15-20-25-30-35-40-45Pan-cancer051015202530350-5-10-15-20-25-30-35proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of ACTA1 with phenotypes and mutations

Loading, please wait
Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_MYOGENESIS1.1e-350.0114e-91.1e-30.082.2e-161.2e-51.8e-4-0.0412.2e-8
xcell: stroma score3.9e-272.5e-31.7e-36.4e-60.0363.9e-85.7e-61.4e-4-0.0641.0e-4
ESTIMATE: StromalScore3.5e-262.1e-37.1e-74.9e-48.4e-31.1e-85.2e-51.9e-3--0.775e-7
HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION2.2e-222.8e-41.6e-70.0010.0710.021.1e-66.1e-3-0.785.1e-7
PROGENy: TGFb6.7e-203.5e-36.5e-63.9e-30.0741.2e-33.7e-51.8e-4--0.821.1e-5
xcell: Cancer associated fibroblast8e-200.0787.2e-75.7e-6-0.637.2e-53.5e-47.9e-4-0.0661.3e-4
HALLMARK_APICAL_JUNCTION9.4e-201.4e-45.3e-60.270.225.2e-82.1e-50.075-0.58.6e-6
HALLMARK_HYPOXIA1.4e-191.8e-50.360.0020.0160.0252.3e-92.4e-5-0.168.2e-3
HALLMARK_UV_RESPONSE_DN1.5e-191.1e-33.4e-40.0680.20.0291.2e-66.7e-5-0.361.5e-7
HALLMARK_KRAS_SIGNALING_UP9.6e-192.0e-41.5e-33.7e-30.0179.1e-46.7e-65.9e-4--0.471.4e-4
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of ACTA1

BRCA0.13-0.190.03proteinmRNASCNVmethylationCCRCC0.30-0.06-0.060.150.040.08proteinmRNASCNVmethylationCOAD0.05-0.24-0.01proteinmRNASCNVmethylationGBM0.03-0.13-0.08-0.050.300.06proteinmRNASCNVmethylationHNSCC0.710.19-0.180.24-0.12-0.21proteinmRNASCNVmethylationLSCC0.090.01-0.07-0.100.19-0.01proteinmRNASCNVmethylationLUAD-0.000.00-0.11-0.080.420.08proteinmRNASCNVmethylationOV0.24proteinmRNASCNVmethylationPDAC0.16-0.020.010.080.050.03proteinmRNASCNVmethylationUCEC-0.00-0.10-0.250.120.310.15proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of ACTA1 and the protein abundance of other genes

Loading, please wait
Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.